Congenital sucrase-isomaltase deficiency in Türkiye; a single center experience.

BACKGROUND: Congenital sucrase-isomaltase deficiency (CSID) is a rare inherited carbohydrate malabsorption disorder caused by sucrase-isomaltase (SI) gene variants. In CSID, an autosomal recessively inherited disease, symptoms can also be seen in individuals with heterozygous mutations. METHODS: The variant spectrum was evaluated retrospectively in individuals who presented with chronic diarrhea between 2014 and 2022 and had undergone genetic testing of the SI gene considering CSID due to diet-related complaints. RESULTS: Ten patients with chronic diarrhea were genetically evaluated with SI gene sequencing. In patients diagnosed with CSID and whose symptoms improved with enzyme replacement therapy, the genetic mutation zygosity was found to be heterozygous at a rate of 90%. In 10% of the patients, the mutation was homozygous. Limiting consuming sucrose and isomaltose foods reduced the patients' complaints, but the symptoms did not disappear completely. With the initiation of sacrosidase enzyme replacement therapy, the patient's complaints completely disappeared. CONCLUSION: In CSID, defined as an autosomal recessive disease, clinical symptoms can also be seen in heterozygous cases previously described as carriers, and these patients also benefit from sacrosidase enzyme replacement therapy. In light of these findings, the autosomal recessive definition of CSID does not fully characterize the disease.What is Known:CSID is a rare inherited carbohydrate malabsorption disorder caused by sucrase-isomaltase gene variants.In congenital sucrase-isomaltase deficiency, an autosomal recessively inherited disorder, symptoms can also be seen in individuals with heterozygous mutations.What is new:Severe disease symptoms can also be seen in heterozygous cases, which were thought to be carriers because the disease was previously described as autosomal recessive.Sacrosidase enzyme replacement therapy also eliminates the disease symptoms in patients with heterozygous CSID mutations.This is the second study on sucrase-isomaltase enzyme deficiency pediatric groups in Türkiye and Europe.

This is the study to evaluate the congenital sucrase-isomaltase enzyme deficiency in chronic diarrhea cases covering adults and childhood in our country and the clinical features and treatment response characteristics of the variants detected in these patients.In addition, another aim of our study is that sucrase­isomaltase enzyme deficiency should be considered in the differential diagnosis and should be kept in mind, especially in cases with chronic diarrhea whose cause cannot be determined in childhood.

Successful therapeutic plasma exchange in a case with extremely severe hypertriglyceridemia secondary to diabetic ketoacidosis concomitant with type IX glycogen storage disease.

Herein, we aimed to present a child with extremely severe hypertriglyceridemia (ESHTG) secondary to diabetic ketoacidosis concomitant with type IX glycogen storage disease (GSD). Extremely severe hypertriglyceridemia (10 700 mg/dL) was detected through the apparent lipemic appearance of the sampled blood in a 17-year-old male patient with severe diabetic ketoacidosis. In spite of insulin infusion, the patient's clinical condition deteriorated to acute pancreatitis. Single sessions of therapeutic plasma exchange (TPE) along with insulin treatment have successfully intercepted the progression of the state of acute pancreatitis. The patient was also diagnosed with type IX GSD on the basis of the genetic analyses performed for the potential underlying metabolic diseases. In conclusion, underlying metabolic diseases, such as glycogen storage disease, should be investigated in patients with diabetic ketoacidosis accompanied by severe hypertriglyceridemia. If ESHTG does not relieve despite insulin infusion, and/or acute pancreatitis occurs as a complication, TPE should be kept in mind.

New-onset celiac disease in children during COVID-19 pandemic.

AIM: We aimed to analyse the influence of the COVID-19 pandemic on the frequency and clinical presentation of celiac disease. METHODS: The study included the patients with celiac disease since January 2008. They were divided into 2 groups (diagnosed in pre-pandemic [January 2008 and February 2020] [n = 148] and in pandemic period [March 2020 and June 2021] [n = 47]). Clinical and histological findings were compared between groups. Additionally, data about severe acute respiratory syndrome coronavirus 2 infection were obtained in subgroup patients (n = 22) with celiac disease diagnosed during pandemic period. RESULTS: The number of patients per year (12.1-37.6) and the percentage of patients who were diagnosed with celiac disease/total endoscopy were increased during the pandemic period (2.2% vs. 10%, p < 0.00001). The association of celiac disease with type 1 diabetes mellitus was significantly high in pandemic period (4% vs. 17%, p = 0.002). Frequency of moderate-severe mucosal lesions was low in pandemic period (42.4% vs. 81.7%, p = 0.0001). Clinical and laboratory markers for the past severe acute respiratory syndrome coronavirus 2 infection were found in 36.3% of patients diagnosed during the pandemic period. CONCLUSION: It seems that the frequency of celiac disease and its association with type 1 diabetes mellitus is increased during the COVID-19 pandemic in children.

Comparison of clinical outcomes and FOXP3, IL-17A responses in Helicobacter pylori infection in children versus adults.

BACKGROUND: The purpose of this study was to compare the clinical symptoms and pathological consequences of Helicobacter pylori (H. pylori) infection between children and adults and determine the levels of expression of FOX3P and IL-17A to examine the Th17/Treg balance. METHODS: Forty pediatric and 40 adult patients who were followed up at the Pediatric Gastroenterology and Internal Medicine Gastroenterology Departments were enrolled in the study. In our case-control study, gastric tissue specimens were evaluated using the updated Sydney system, and the number of cells expressing FOXP3/IL-17A (Treg and Th17 cell markers) was analyzed immunohistochemically. In addition, each case was evaluated using a clinical follow-up questionnaire. RESULTS: Clinical signs and symptoms of children and adults were similar. IL-17A and FOXP3 levels were significantly higher in children and adults with H. pylori (+) than in those without H. pylori (-) (p < .001). In patients with H. pylori (+), the mean FOXP3 level was significantly higher, whereas the mean IL-17A level was significantly lower in children than in adults (p < 0001 for both groups). In children with H. pylori (+), bacterial density was negatively correlated with IL-17A level and positively correlated with FOXP3 level. In adults with H. pylori (+), there was a statistically significant, highly positive correlation between bacterial density and levels of IL-17A and FOXP3. CONCLUSIONS: Treg cells are suggested to more predominant in children than in adults, IL-17A levels decrease as H. pylori bacterial density increases. In conclusion, immune responses incline toward Treg , which increases the susceptibility to persistent infections.

Altered von Willebrand Factor and ADAMTS13 Levels in Children With Cirrhosis and Extrahepatic Portal Hypertension.

BACKGROUND/AIM: This study was concerned with whether vWF (von Willebrand factor) and a disintegrin and metalloprotease with a thrombospondin type 1 motif, member 13 (ADAMTS13) has altered in patients with cirrhosis and extrahepatic portal hypertension (EPH). We aimed to investigate changes to vWF and ADAMTS13 in children with cirrhosis and EPH. PATIENTS AND METHODS: This study was conducted between January and October 2019 with both cirrhosis and EPH patients and with healthy volunteers. The von Willebrand factor antigen (vWF:Ag), von Willebrand Ristocetin cofactor (vWF:RCo), and ADAMTS13 antigen and activity were studied. RESULTS: Twenty-eight children with cirrhosis, 16 children with EPH, and 20 healthy controls were included in the study. vWF:Ag and vWF:RCo levels were higher in patients with cirrhosis than in healthy controls (171.65±101.67 vs. 85.86±30.58, P<0.01 and 121.62±55.83 vs. 61.52±27.03, P<0.01, respectively). vWF:Ag and vWF:RCo levels were higher in patients with EPH than in healthy controls (133.93±80.13 vs. 85.86±30.58, P<0.01 and 103.18±58.55 vs. 61.52±27.03, P=0.02, respectively). The ADAMTS13 antigen and activity levels were lower in patients with cirrhosis than in healthy controls (0.58±0.23 vs. 0.97±0.15, P<0.01 and 49.91±22.43 vs. 86.51±22.07, P=0.02, respectively). The ADAMTS13 antigen and activity levels were lower in patients with EPH than in healthy controls (0.69±0.11 vs. 0.97±0.15, P=0.03; and 68.50±13.29 vs. 86.51±22.07, P=0.02, respectively). The increase in vWF and the decrease in ADAMTS13 were more pronounced in cirrhotic patients with autoimmune hepatitis (AIH) than in non-AIH patients. CONCLUSIONS: While levels of vWF:Ag and vWF:RCo increased in children with cirrhosis and EPH, levels of the ADAMTS13 antigen and ADAMTS13 activity decreased. These alterations were more pronounced in patients with AIH-derived cirrhosis.

Investigation of phage and molasses interactions for the biocontrol of E. coli O157:H7.

Resistance to antibiotics is one of the most critical health problems in the world. Therefore, finding new treatment methods to be used as alternatives to antibiotics has become a priority for researchers. Similar to phages, certain products containing antimicrobial components, such as molasses, are widely used to eliminate resistant bacteria. Molasses has a strong antimicrobial effect on bacterial cells, and this effect is thought to be due to the breakdown of the cytoplasmic cell membrane and cell proteins of the polyphenols in molasses. In the present study, phage-molasses interactions were investigated to examine the effects of concomitant use. It was found that molasses samples increased the size of phage plaques by up to 3-fold, and MIC and 1/2 × MIC concentrations of molasses increased the burst size of phages. Although no synergistic effect was found between the phage and molasses, the antimicrobial activities of the components and the effect of molasses on phage activity were demonstrated.

The first pediatric case of hemophagocytic lymphohistiocytosis secondary to Crimean-Congo haemorrhagic fever successfully treated with therapeutic plasma exchange accompanying ribavirin and intravenous immunoglobulin.

Although Crimean-Congo hemorrhagic fever (CCHF) is mild and self-limited in children, some patients may develop excessive bleeding, massive liver necrosis, and multiple organ failure associated with secondary hemophagocytic lymphohistiocytosis (HLH) induced by cytokine storm. Treatment of CCHF is mainly symptomatic and supportive. The efficacy of ribavirin, which is the only antiviral drug in the treatment of CCHF, remains controversial. Although therapeutic plasma exchange (TPE) has been shown to beneficial in small case series with primary and secondary HLH, there is no pediatric patient with HLH secondary to CCHF treated with TPE in the literature. In this report, we describe the first pediatric patient who was successfully recovered from HLH secondary to CCHF with ribavirin, intravenous immunoglobulin, and TPE.

Effectivity of Pancreatic Enzyme Replacement Therapy in Malnourished Children.

OBJECTIVE: Malnutrition is commonly seen in children with exocrine pancreatic insufficiency (EPI). Pancreatic enzyme replacement therapy (PERT) is the mainstay treatment of acute malnutrition in children detected with a disease closely associated with EPI (eg, cystic fibrosis). The effectiveness of PERT in children with malnutrition without any chronic disease, however, remains unclear. The aim of this study was to investigate the effectiveness of PERT on weight gain and EPI in children classified as moderately and severely malnourished according to the World Health Organization (WHO) classification. MATERIALS AND METHODS: The study included a total of 40 children aged 2-16 years who were classified as moderately and severely malnourished according to the WHO classification. The patients were randomly divided into 2 groups: PERT group (n = 20) received 2000 U lipase/kg/day (in 4 doses) in addition to hypercaloric enteral supplements and control group received hypercaloric enteral supplements only. In both groups, anthropometric measurements and the assessment of fecal elastase-1 (FE-1) levels were performed both at first admission and at the end of the 8-week treatment period. RESULTS: On the basis of WHO classification, 10 (25%) children were classified as severely malnourished and 30 (75%) children as moderately malnourished. EPI was detected in all the patients, among whom 24 (60%) patients had severe EPI. At the end of the treatment, body weight, height, and body mass index (BMI) increased significantly in both groups compared to their pre-treatment values, whereas no significant difference was found with regard to waist circumference (WC) and FE-1 levels. Similarly, no significant difference was found between pre- and posttreatment measurements of PERT and control groups (P > 0.05) and between pre- and posttreatment measurements of patients with moderate and severe malnutrition (P > 0.05). CONCLUSIONS: Malnutrition remains a serious public health problem, and thus, the development of novel treatment methods is highly essential. PERT is one of the most commonly considered alternatives, although there is little documentation of PERT in the literature. In the present study, although PERT resulted in higher weight gain, it established no significant difference between the 2 groups.

Acute liver failure associated with metabolic diseases: A 10-year single-center experience.

BACKGROUND: Acute liver failure (ALF) is a rare multisystemic disease occurring in individuals with no history of liver disease, characterized by coagulopathy and / or hepatic encephalopathy secondary to acute liver injury. It is mostly caused by viral infections, drug intoxication, and metabolic diseases (MD), and can also have an indeterminate etiology. In this study, we aimed to evaluate the demographic and clinical characteristics and clinical outcomes of the patients that presented to our clinic with MD-associated ALF. METHODS: This retrospective study reviewed age, gender, parental consanguinity, family history, presence of encephalopathy, laboratory parameters, and clinical outcomes of the patients that presented to our clinic between January 2009 and January 2019. Patients with MD-associated ALF were compared with patients in whom ALF was associated with other etiologies. RESULTS: The study included 39 patients (53.8% boys; mean age + SD 6.13 ± 1.43 years). The total and direct bilirubin, international normalized ratio, and ammoniac levels were significantly higher in patients with MD than in the others (P < 0.05). Moreover, the incidences of hypoglycemia, death of a sibling and / or a family history of liver disease were also higher in patients with MD than in the others (P < 0.05). On the other hand, alanine aminotransferase (ALT) levels were significantly higher in patients with other etiologies. CONCLUSIONS: Metabolic diseases should be kept in mind in patients with a history of parental consanguinity and a positive family history of liver disease along with less increased alanine aminotransferase than expected, and increased bilirubin, international normalized ratio, and ammoniac levels and hypoglycemia. As the number of these parameters increases, the chance of diagnosis increases.

Surface enhanced Raman spectroscopy as a novel tool for rapid quantification of heroin and metabolites in saliva

Background: Heroin can be detected and quantified by certain analytical methods, however, forensic professionals and criminal laboratories study for cheaper and faster detection tools. Surface-enhanced Raman spectroscopy (SERS) rises as a possible alternative tool with its widening application spectra. There are few studies regarding Raman and SERS spectra of heroin and its metabolites, which are unfortunately controversial. In this study, we compared five different surfaces in order to find out more efficient Raman-active substrate for opiate detection and rapid quantification of heroin and its metabolites in saliva. Materials and methods: Morphine standard material was used to identify proper surface for SERS analysis of opiates. Heroin and its metabolites (morphine, morphine-3-ß-glucuronide and 6-monoacetyl morphine) were calibrated between 50 ppb and 500 ppm and quantified on AuNRs with signal enhancement of silver colloids in saliva. Raman microscope with a 785-nm laser source was used. Results and Conclusion: Obtained results showed that heroin and its metabolites can be detected and quantified in saliva samples using a SERS-based system. Additionally, the present study revealed that synergetic effect of a specific gold nano-surface with ability controlling liquid motion and silver nanoparticles increase band numbers and intensities. Therefore, we suggest a fast, accurate and cost-effective method to detect and quantify heroin in biological fluids

Immunomagnetic separation and Listeriamonocytogenes detection with surface-enhanced Raman scattering

Background/aim: We aimed to develop a rapid method to enumerate Listeria monocytogenes (L. monocytogenes) utilizing magnetic nanoparticle based preconcentration and surface-enhanced Raman spectroscopy measurements. Materials and methods: Biological activities of magnetic Au-nanoparticles have been observed to have the high biocompatibility, and a sample immunosensor model has been designed to use avidin attached Au-nanoparticles for L. monocytogenes detection. Staphylococcus aureus (S. aureus) and Salmonella typhimurium (S. typhimurium) bacteria cultures were chosen for control studies. Antimicrobial activity studies have been done to identify bio-compatibility and bio-characterization of the Au-nanoparticles in our previous study and capturing efficiencies to bacterial surfaces have been also investigated. Results: We constructed the calibration graphs in various population density of L. monocytogenes as 2.2 × 101 to 2.2 × 106 cfu/mL and the capture efficiency was found to be 75%. After the optimization procedures, population density of L. monocytogenes and Raman signal intensity showed a good linear correlation (R2 = 0.991) between 102 to 106 cfu/mL L. monocytogenes. The presented sandwich assay provides low detection limits and limit of quantification as 12 cfu/mL and 37 cfu/mL, respectively. We also compared the experimental results with reference plate-counting methods and the practical utility of the proposed assay is demonstrated using milk samples. Conclusion: It is focused on the enumeration of L. monocytogenes in milk samples and the comparision of results of milk analysis obtained by the proposed SERS method and by plate counting method stay in food agreement. In the present study, all parameters were optimized to select SERS-based immunoassay method for L. monocytogenes bacteria to ensure LOD, selectivity, precision and repeatablity.

Helicobacter pylori resistance to clarithromycin and fluoroquinolones in a pediatric population in Turkey: A cross-sectional study.

BACKGROUND: Helicobacter pylori antimicrobial resistance is gradually increasing around the world. However, there are a limited number of studies reporting on this issue in the pediatric population. In this study, we aimed to determine H pylori resistance to clarithromycin and fluoroquinolones in the pediatric patients living in Kirikkale province that were detected with H pylori in gastric biopsies. Moreover, we also aimed to investigate the concordance between the histopathologic and molecular methods used in the diagnosis of H pylori infection. MATERIALS AND METHODS: Patients aged 2-18 years who had a history of epigastric pain and/or nausea persisting for longer than 1 month underwent upper gastrointestinal endoscopy. Biopsies were taken from the gastric antral mucosa. In the samples detected with H pylori in the histopathologic examination, the presence of H pylori and H pylori resistance to clarithromycin and fluoroquinolones was investigated using the GenoType HelicoDR test which allows the detection of wild-type and mutant genes. The strains detected with more than one mutant gene are defined as hetero-resistant strains. RESULTS: The 93 patients that underwent DNA extraction and amplification included 68 (73.1%) girls and 25 (26.9%) boys with a median age of 15 ± 2.62 (range 6-17) years. The overall concordance for the diagnosis of H pylori infection between histopathology and PCR was 94%, and H pylori resistance to clarithromycin and fluoroquinolones was 27% and 15%, respectively. CONCLUSIONS: The high H pylori resistance to clarithromycin and fluoroquinolones among the pediatric patients in our region implicates that the antibiotic sensitivity of strains should be studied prior to administration in accordance with the recommendations provided in the guidelines. Moreover, the presence of hetero-resistant strains in our patients may be a reason for treatment failure.

Typhoid Fever Accompanied With Hematopoetic Lymphohistiocytosis and Rhabdomyolysis in a Refugee Child.

Typhoid fever is an acute and systemic infectious disease that is specific to humans and is caused by Salmonella typhi. Patients may present with different findings ranging from simple fever to multiple organ failure. Hemophagocytosis and rhabdomyolysis are rare complications of typhoid fever. In this study, we presented a case of hemophagocytic lymphohistiocytosis and rhabdomyolysis in a 14-year-old girl who migrated from Mosul, Iraq, 1 month ago.

The Pattern of Tpeak-Tend Interval and QTdis, and Pdis in Children with Brucellosis.

OBJECTIVE: To investigate the effect of inflammation on the conducting system of the heart in patients diagnosed with brucellosis. METHODS: A total of 42 patients diagnosed with brucellosis and 39 age and sex-matched healthy children were enrolled into the study. Pre- and post-treatment electrocardiographic parameters in brucellosis and control group were recorded from an electrocardiogram for each patient. RESULTS: The results indicated that the parameters including Pmax, Pdis, QTmax, QTdis, QTcdis, Tp-edis interval and Tp-emax/QTmax and Tp-emax/QTcmax ratios, which are known to be key indicators for the prediction of severe atrial or ventricular arrhythmia and sudden cardiac death and also important parameters used as the indicators for the non-invasive evaluation of the transmural heterogeneity were significantly longer in the study group compared with the control group (p < 0.05). CONCLUSION: In this study, it was determined that the brucella disease had more cardiac involvement than thought, and this was more in the subclinical form of cardiac involvement.

SERS-based direct and sandwich assay methods for mir-21 detection.

In this study, two different assay methods were developed using a surface enhanced Raman scattering (SERS) label for sensitive miR-21 detection. In the first method (direct assay), the miR-21 probe was attached to SERS-labelled, rod-shaped gold nanoparticles and hybridised with the target miR-21, which was previously immobilised onto the gold slide. In the second method (sandwich assay), the target miR-21 was captured by an miR-21 probe immobilised onto the gold slide and hybridised with a second miR-21 probe immobilised on the SERS-labeled, rod-shaped gold nanoparticles. SERS signals of developed assays were obtained via a SERS spectrum of 5,5'-dithiobis(2-nitrobenzoic acid) (DTNB) on the rod-shaped nanoparticles. The calibration curves were plotted to measure the different concentrations of miR-21. The detection limits of the direct and sandwich assays, which last less than 40 min, were found to be 0.36 and 0.85 nM, respectively. The developed SERS-based methods offer rapid, selective, sensitive and easy detection of miR-21, especially compared to conventional PCR-based methods.

Paraganglioma presenting with marked proteinuria: a case report.

Paragangliomas are rare neuroendocrine tumors that arise from sympathetic and parasympathetic paraganglia. In children, most of them are functional tumors. Presenting symptoms such as sustained or paroxysmal elevations in blood pressure, headache, sweating, and palpitations are related to catecholamine hypersecretion. A previously healthy 8-year-old boy presented with marked proteinuria, hypertension, and heart murmur. Imaging revealed an 81×43×45 mm sized solid mass extending from right retroaortic area to left suprarenal region. Measurements of catecholamines suggested the diagnosis of paraganglioma. Pathologic examination confirmed the diagnosis. Complete tumor resection was performed. Proteinuria, hypertension, and cardiac signs resolved after surgery. Proteinuria has been described as a rare manifestation of paragangliomas in adult patients. This is the first case of a paraganglioma presenting with massive proteinuria in a child.

Congenital Sucrase-Isomaltase Deficiency: Same Mutation with Different Clinical Presentations.

BACKGROUND/AIMS:  Congenital sucrase-isomaltase deficiency is an autosomal recessive inherited disaccharidase deficiency characterized by chronic osmotic diarrhea. In this study, the genotype-phenotype relationships of close relatives of an index case with congenital sucrase-isomaltase deficiency were investigated. MATERIALS AND METHODS:  A 23-month-old female patient with a sucrase-isomaltase gene c.317G>A (p.C106Y) homozygous mutation was diagnosed as an index case and her pedigree analysis was performed subsequently. The family members with and without sucrase- isomaltase gene mutations were compared in terms of clinical symptoms. RESULTS:  The study included 109 cases [mean age ± SD: 22.6 ± 17.2 years (0.1-75 years), 61 males (56%)] of 130 family members of the index case. Sucrase-isomaltase gene c.317G>A (p.C106Y) heterozygous mutation was detected in 27 cases (24.7%); 14 (51.9%) were male and had a mean age of 23.2 ± 18.3 years. The most common complaints of 12 (44.4%) symptomatic patients with mutations were abdominal pain (37%), gas irritability (33.3%), bloating (22.2%), and foul-smelling stools (18.5%). Compared with the cases without mutation, a statistically significant difference was observed in the incidence of gas irritability, foul-smelling stool, ≥2 gastrointestinal symptoms, postprandial complaints, and food allergy (P = .005, P = .047, P = .049, P = .017, P = .021, respectively). Sacrosidase enzyme replacement was applied to 7 patients whose symptoms did not improve with dietary elimination. Clinical response was obtained after enzyme treatment. CONCLUSION:  Despite its autosomal recessive inheritance, congenital sucrase-isomaltase deficiency can also be symptomatic in heterozygous individuals. Further studies are required to clarify the genotype-phenotype relationship and management of the disease.

Applicability of the Pancreatic Exocrine Insufficiency Test (PEI-TEST) in Pediatric Patients.

In mild cases, it is difficult to diagnose pancreatic exocrine insufficiency (PEI). There is no gold standard method for the diagnosis of PEI. A reliable method is needed for preliminary diagnosis of PEI. The PEI-TEST was applied to the patients with nonspecific gastrointestinal complaints. Serum amylase, lipase, serum trypsinogen, and fecal elastase 1 (FE-1) were analyzed from each patient. According to the PEI-TEST, PEI was present in 42 (47.7%) and PEI was not present in 46 (52.3%) patients. No significant difference was observed between the 2 groups with regard to age, gender and amylase, lipase, serum trypsinogen, and FE-1. When an FE-1 value of <200 µg/dL was considered as indicating PEI, the sensitivity and specificity of the test were found to be 47.4% and 52.2%, respectively. Although it is promising that PEI-TEST is a validated test in our country and suitable for our society, it is not suitable for pediatric patients.